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1دورية أكاديميةFloppy Mitral Valve/Mitral Valve Prolapse (FMV/MVP): An unrevealed genotype – Phenotype relationship
المؤلفون: Konstantinos Dean Boudoulas, Antonios A. Pitsis, Efstratios K. Theofilogiannakos, Francesca Madiai, Sara Koenig, Timotheos G. Kelpis, Peter J. Mohler, Ernest L. Mazzaferri, Harisios Boudoulas
المصدر: Hellenic Journal of Cardiology, Vol 61, Iss 5, Pp 354-356 (2020)
مصطلحات موضوعية: floppy mitral valve, mitral valve prolapse, genetics, DCHS1, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Shujun Liu, Francesca Madiai, Kevin V Hackshaw, Carl E Allen, Joseph Carl, Emily Huschart, Chris Karanfilov, Alan Litsky, Christopher J Hickey, Guido Marcucci, Sarandeep Huja, Sudha Agarwal, Jianhua Yu, Michael A Caligiuri, Lai-Chu Wu
المصدر: PLoS ONE, Vol 6, Iss 3, p e17161 (2011)
وصف الملف: electronic resource
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المؤلفون: Thomas J. Hund, Konstantinos Dean Boudoulas, Aaron D. Argall, Omer Cavus, Sara N. Koenig, Gbemiga G. Sofowora, M Wesley Milks, Mona El Refaey, Loren E. Wold, Sakima A. Smith, Elizabeth M. Jose, Holly C. Sucharski, Jordan L. Williams, Peter J. Mohler, Nathan T. Wright, Francesca Madiai, Emma K. Dudley, Karolina M. Zareba, Nathaniel P. Murphy, Elisa A. Bradley, Richard J. Gumina, Ernest L. Mazzaferri, Caullin B. R. Keith
المصدر: Circ Res
مصطلحات موضوعية: Adult, Male, Proband, Heterozygote, Heredity, Physiology, Induced Pluripotent Stem Cells, Population, Coronary Artery Disease, Biology, Compound heterozygosity, Risk Assessment, Severity of Illness Index, Article, symbols.namesake, Risk Factors, Exome Sequencing, Animals, Humans, Genetic Predisposition to Disease, Age of Onset, Allele, education, Genetic Association Studies, Exome sequencing, Genetics, education.field_of_study, Genetic Variation, Hep G2 Cells, Middle Aged, Scavenger Receptors, Class B, Null allele, SCARB1, Pedigree, Mice, Inbred C57BL, HEK293 Cells, Phenotype, Hepatocytes, Mendelian inheritance, symbols, Female, Cardiology and Cardiovascular Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b91991554a95244df231751cfe6b2b83
https://doi.org/10.1161/circresaha.120.318793 -
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المؤلفون: Sara N. Koenig, Elisa A. Bradley, Silvia Faravelli, Federico Forneris, Jeff Tonniges, Luigi Scietti, Holly C. Sucharski, Francesca De Giorgi, Matthew C. Bernier, Peter J. Mohler, Jordan L. Williams, Muhannad Akel, Omer Cavus, Peter B. Baker, Trevor Dew, Francesca Madiai
المصدر: Transl Res
مصطلحات موضوعية: Adult, Male, Vascular smooth muscle, Phenotypic switching, Mutation, Missense, Biology, Fibril, Article, Muscle, Smooth, Vascular, Familial thoracic aortic aneurysm, chemistry.chemical_compound, Downregulation and upregulation, Physiology (medical), medicine, Humans, Aorta, Cells, Cultured, Aortic Aneurysm, Thoracic, Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase, Biochemistry (medical), Public Health, Environmental and Occupational Health, General Medicine, medicine.disease, Human morbidity, Cell biology, Pedigree, Collagen Type I, alpha 1 Chain, Hydroxylysine, Procollagen peptidase, Collagen Type III, chemistry, Amino Acid Substitution, Female, Collagen
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b885ca028635a416f97e3bcfc95a2321
https://europepmc.org/articles/PMC8671190/ -
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المؤلفون: Gregory T. Sigurdson, M. Monica Giusti, Luis E. Rodriguez-Saona, Kevin V. Hackshaw, Marçal Plans, C. A. Buffington, Francesca Madiai, Didem Peren Aykas, Lianbo Yu
المصدر: Journal of Biological Chemistry. 294:2555-2568
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, 030102 biochemistry & molecular biology, business.industry, Methods and Resources, Diagnostic test, Cell Biology, Osteoarthritis, medicine.disease, Biochemistry, Gastroenterology, 03 medical and health sciences, 030104 developmental biology, Rheumatoid arthritis, Pain severity, Fibromyalgia, Internal medicine, Biomarker (medicine), Medicine, business, Molecular Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10da5f4dfe10e7180fc43c4f69a3187a
https://doi.org/10.1074/jbc.ra118.005816 -
6Correction: Metabolic fingerprinting for diagnosis of fibromyalgia and other rheumatologic disorders
المؤلفون: Kevin V. Hackshaw, Marçal Plans, Gregory T. Sigurdson, Didem Peren Aykas, Lianbo Yu, M. Monica Giusti, Luis E. Rodriguez-Saona, Francesca Madiai, C. A. Buffington
المصدر: J Biol Chem
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Fibromyalgia, Spectrophotometry, Infrared, business.industry, Published Erratum, MEDLINE, Pain, Cell Biology, Middle Aged, medicine.disease, Biochemistry, Dermatology, Surveys and Questionnaires, medicine, Humans, Additions and Corrections, Female, business, Molecular Biology, Biomarkers, Chromatography, High Pressure Liquid, Pain Measurement
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd3736744143e3ff054110bc845a961
https://europepmc.org/articles/PMC7186174/ -
7Floppy Mitral Valve/Mitral Valve Prolapse (FMV/MVP): An unrevealed genotype - Phenotype relationship
المؤلفون: Ernest L. Mazzaferri, Harisios Boudoulas, Efstratios K. Theofilogiannakos, Peter J. Mohler, Konstantinos Dean Boudoulas, Antonios A. Pitsis, Francesca Madiai, Sara N. Koenig, Timotheos G. Kelpis
المصدر: Hellenic Journal of Cardiology, Vol 61, Iss 5, Pp 354-356 (2020)
مصطلحات موضوعية: lcsh:Diseases of the circulatory (Cardiovascular) system, medicine.medical_specialty, DCHS1, Mitral Valve Prolapse, business.industry, Floppy Mitral Valve, Mitral Valve Insufficiency, medicine.disease, Genotype phenotype, Phenotype, lcsh:RC666-701, Internal medicine, medicine, Cardiology, Mitral valve prolapse, Humans, genetics, Genetic Predisposition to Disease, floppy mitral valve, Cardiology and Cardiovascular Medicine, business
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المؤلفون: Jordan L. Williams, Omer Cavus, Muhannad Akel, Elisa A. Bradley, Peter J. Mohler, Matthew Granger, Sara N. Koenig, Peter B. Baker, Francesca Madiai
المصدر: Journal of the American College of Cardiology. 75:2227
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Cell, medicine.disease, Connective tissue disease, Ehlers danlos, Familial thoracic aortic aneurysm, medicine.anatomical_structure, Smooth muscle, Mutation (genetic algorithm), New mutation, medicine, CTD, Cardiology and Cardiovascular Medicine, business
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المؤلفون: Marianne S. Jurkowitz, Guido Marcucci, Douglas R. Pfeiffer, Elisabeth A. Calhoon, Shujun Liu, Lai-Chu Wu, Francesca Madiai
المصدر: The Journal of Biological Chemistry
مصطلحات موضوعية: Male, Plasmalogen, Lysoplasmalogen, Hydrolases, Plasmalogens, Enzyme Purification, Biochemistry, Mass Spectrometry, Rats, Sprague-Dawley, 03 medical and health sciences, Fatty aldehyde, chemistry.chemical_compound, Membrane Lipids, 0302 clinical medicine, Western blot, Complementary DNA, medicine, Animals, Humans, Northern blot, Gene Identification, Molecular Biology, Lysoplasmalogenase, 030304 developmental biology, chemistry.chemical_classification, Octyl glucoside, 0303 health sciences, medicine.diagnostic_test, Chemistry, HEK 293 cells, Membrane Proteins, Cell Biology, Liver Metabolism, Hydrogen-Ion Concentration, Intestinal Metabolism, Molecular biology, Lipids, Phospholipid Metabolism, Rats, Enzyme, HEK293 Cells, Liver, 030220 oncology & carcinogenesis, Microsomes, Liver, Lysophospholipids
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0717866b365afce90c3a69d46b8df701
http://europepmc.org/articles/PMC3137066 -
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المؤلفون: Arun K. Tewari, Robert L. Stephens, Oscar Alzate, Syed-Rehan A. Hussain, Virginia M. Goettl, Francesca Madiai, Kevin V. Hackshaw
المصدر: Molecular Brain Research. 128:193-200
مصطلحات موضوعية: Male, Proteomics, Central nervous system, Biology, Peptide Mapping, Gas Chromatography-Mass Spectrometry, Rats, Sprague-Dawley, Cellular and Molecular Neuroscience, Cytosol, Fatty acid binding, medicine, Animals, Electrophoresis, Gel, Two-Dimensional, Receptor, Ligation, Molecular Biology, Pain Measurement, Gel electrophoresis, T-cell receptor, Proteins, Rats, Disease Models, Animal, Spinal Nerves, medicine.anatomical_structure, Biochemistry, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Neuralgia, Brainstem, Neuroscience, Alpha chain, Brain Stem